fibrillin 1
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The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In the extracellular matrix, fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils, which are organized into a network. This microfibrillar network acts as a platform or scaffold for the assembly of elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. The microfibrillar network also provides support to the bones and to the tissues that support the nerves, muscles, and lenses of the eyes.
Normal function
The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. In the extracellular matrix, fibrillin-1 proteins bind to each other and to other proteins to form threadlike filaments called microfibrils, which are organized into a network. This microfibrillar network acts as a platform or scaffold for the assembly of elastic fibers, which enable the skin, ligaments, and blood vessels to stretch. The microfibrillar network also provides support to the bones and to the tissues that support the nerves, muscles, and lenses of the eyes.
As part of the microfibrillar network, fibrillin-1 also regulates certain growth factor proteins. Growth factors are important proteins that help regulate cell processes such as the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis). A particular growth factor called transforming growth factor beta (TGF-β) is stored within the microfibrillar network. When it is stored, TGF-β is turned off. Once it is released from the network, TGF-β is turned on and can activate important signaling pathways, including those involved in bone formation. By helping to regulate the availability of TGF-β, fibrillin-1 also helps regulate its activity.
Conditions referring to this gene or chromosome
Other names
asprosin
Marfan syndrome
MASS
OCTD
SGS
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Further reading and references
- fibrillin 1; MedlinePlus, National Library of Medicine.
- Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377.
- Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Beroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G. The revised ghent nosology; reclassifying isolated ectopia lentis. Clin Genet. 2015 Mar;87(3):284-7. doi: 10.1111/cge.12358. Epub 2014 Mar 6.
- Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993 Aug;17(2):468-75. doi: 10.1006/geno.1993.1349.
- Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Ades L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809.
- Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Ades LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25.
- Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34.
- Glesby MJ, Pyeritz RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA. 1989 Jul 28;262(4):523-8.
- Globa E, Zelinska N, Dauber A. The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. Case Rep Endocrinol. 2018 Jul 3;2018:8212417. doi: 10.1155/2018/8212417. eCollection 2018.
- Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.
- Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010 Mar 17;2(23):23ra20. doi: 10.1126/scitranslmed.3000488.
- Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonniere M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21.
- Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet. 2007;52(1):1-12. doi: 10.1007/s10038-006-0078-1. Epub 2006 Oct 24.
- Passarge E, Robinson PN, Graul-Neumann LM. Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet. 2016 Aug;24(9):1244-7. doi: 10.1038/ejhg.2016.6. Epub 2016 Feb 10.
- Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29.
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